Molecular genetic tests in surgical management of familial adenomatous polyposis

Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.

Clinical genetics·2017

Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial.

British journal of cancer·2014

A thirty-year follow-up surveillance study for neoplasia of a dutch ulcerative colitis cohort.

TheScientificWorldJournal·2014

A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts.

Familial cancer·2012

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

British journal of cancer·2012

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

Psycho-oncology·2011

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Lancet (London, England)·2026

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

Lancet (London, England)·2026

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Lancet (London, England)·2026

Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

Lancet (London, England)·2026

Large-conductance calcium-activated potassium (BK) channels regulate respiratory, metabolic and behavioural responses to CO2/pH in mice.

The Journal of physiology·2026

Metabolic dysfunction and GZMK+ CD8+ T-cell remodeling in hepatocellular carcinoma: an evidence-stratified, hypothesis-generating review.

Frontiers in immunology·2026

Distinct responses of COL17A1 nonsense variants to readthrough drugs and NOG as a novel enhancer in junctional epidermolysis bullosa.

Molecular therapy. Nucleic acids·2026

Incidence of Gynecological Cancers Is Rising in Northern Iran: A Population-Based, Serial Cross-Sectional Joinpoint Regression Study.

Health science reports·2026

Mechanistic insights into VSIR-mediated AXL regulation and gastric cancer proliferation.

iScience·2026

Meso-scale spatial analysis of papilloma formation and clonal expansion in cancerized skin.

Genome research·2026

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Molecular genetic tests in surgical management of familial adenomatous polyposis

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Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.

Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial.

A thirty-year follow-up surveillance study for neoplasia of a dutch ulcerative colitis cohort.

A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

Large-conductance calcium-activated potassium (BK) channels regulate respiratory, metabolic and behavioural responses to CO2/pH in mice.

Metabolic dysfunction and GZMK+ CD8+ T-cell remodeling in hepatocellular carcinoma: an evidence-stratified, hypothesis-generating review.

Distinct responses of COL17A1 nonsense variants to readthrough drugs and NOG as a novel enhancer in junctional epidermolysis bullosa.

Incidence of Gynecological Cancers Is Rising in Northern Iran: A Population-Based, Serial Cross-Sectional Joinpoint Regression Study.

Mechanistic insights into VSIR-mediated AXL regulation and gastric cancer proliferation.

Meso-scale spatial analysis of papilloma formation and clonal expansion in cancerized skin.

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Molecular genetic tests in surgical management of familial adenomatous polyposis

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